A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674108



Internal ID13686298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78643153..78643161hg38UCSC Ensembl
Innerchr1:78643145..78643167hg38UCSC Ensembl
Outerchr1:78643137..78643177hg38UCSC Ensembl
chr1:79108838..79108846hg19UCSC Ensembl
Innerchr1:79108830..79108852hg19UCSC Ensembl
Outerchr1:79108822..79108862hg19UCSC Ensembl
chr1:78881426..78881434hg18UCSC Ensembl
Innerchr1:78881440..78881418hg18UCSC Ensembl
Outerchr1:78881410..78881450hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3431836
Supporting Variants
SamplesNA12878
Known GenesIFI44L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674108
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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